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http://dx.doi.org/10.1016/j.ajem.2021.03.044 | DOI Listing |
Ann Indian Acad Neurol
January 2025
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment.
View Article and Find Full Text PDFGenes Genomics
January 2025
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.
Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.
Curr Cardiol Rep
January 2025
Department of Cardiovascular Surgery, University Medical Center HCMC, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, 72714, Vietnam.
Purpose Of Review: This narrative review evaluates the limitations of current heart transplantation allocation models, which prioritize medical urgency and waitlist time but fail to adequately predict long-term post-transplant outcomes. It aims to identify advanced metrics that can strengthen the prioritization framework while addressing persistent racial, geographic, and socioeconomic inequities in access to transplantation.
Recent Findings: Recent research indicates that incorporating frailty, nutritional status, immunological compatibility, and pulmonary hemodynamics into allocation frameworks can enhance the prediction of transplant outcomes.
Clin Pediatr Endocrinol
January 2025
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
From the perspective of clinical pediatric endocrinology, progress in molecular biology over the past few decades has improved our understanding of growth physiology. This progress was particularly conspicuous in the early era of Sanger-based sequencing and has continued into the current era of next-generation sequencing. The first half of this review summarizes the current understanding about growth.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!